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Jack A. Kosmicki · SciRah

Researcher profile · Semantic Scholar

Jack A. Kosmicki

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Jack A. Kosmicki — researcher profile on SciRah

h-index: 26
Works: 37
Citations: 30K

Most-cited papers

Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, K. Karczewski, E. Minikel, K. Samocha +75 more
2015Nature9,704 citations Open access
Semantic Scholar
The mutational constraint spectrum quantified from variation in 141,456 humans
K. Karczewski, L. Francioli, Grace Tiao, B. Cummings +62 more
2020Nature8,785 citations Open access
Semantic Scholar
Predicting Splicing from Primary Sequence with Deep Learning.
K. Jaganathan, S. Kyriazopoulou-Panagiotopoulou, J. McRae, S. Darbandi +13 more
2019Cell2,595 citations Open access
Semantic Scholar
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Satterstrom, Jack A. Kosmicki, Jiebiao Wang, M. Breen +186 more
2019Cell2,103 citations Open access
Semantic Scholar
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
K. Karczewski, L. Francioli, Grace Tiao, B. Cummings +61 more
2019bioRxiv1,094 citations Open access
Semantic Scholar
A framework for the interpretation of de novo mutation in human disease
K. Samocha, E. Robinson, Stephan J Sanders, Christine R. Stevens +22 more
2014Nature Genetics1,048 citations Open access
Semantic Scholar
Synaptic, transcriptional, and chromatin genes disrupted in autism
S. de Rubeis, Xin He, A. P. Goldberg, C. Poultney +87 more
2014Nature813 citations Open access
Semantic Scholar
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
D. Weiner, E. Wigdor, S. Ripke, R. Walters +19 more
2016Nature Genetics459 citations Open access
Semantic Scholar
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
E. Robinson, B. St Pourcain, V. Anttila, Jack A. Kosmicki +18 more
2015Nature Genetics402 citations Open access
Semantic Scholar
Supplementary Information for Predicting the clinical impact of human mutation with deep neural networks
Laksshman Sundaram, Hong Gao, S. Padigepati, J. McRae +10 more
2018395 citations
Semantic Scholar
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
Jack A. Kosmicki, K. Samocha, D. Howrigan, Stephan J Sanders +12 more
2016Nature Genetics375 citations Open access
Semantic Scholar
Regional missense constraint improves variant deleteriousness prediction
K. Samocha, Jack A. Kosmicki, K. Karczewski, A. O'Donnell-Luria +4 more
2017bioRxiv370 citations Open access
Semantic Scholar
De novo variants in neurodevelopmental disorders with epilepsy
H. Heyne, T. Singh, H. Stamberger, R. Jamra +48 more
2018Nature Genetics265 citations Open access
Semantic Scholar
Transcript expression-aware annotation improves rare variant interpretation
B. Cummings, K. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby +14 more
2020Nature176 citations Open access
Semantic Scholar
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have a similar burden of rare protein-truncating variants
F. Satterstrom, R. Walters, T. Singh, E. Wigdor +18 more
2019Nature Neuroscience176 citations Open access
Semantic Scholar
Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations
D. Howrigan, S. Rose, K. Samocha, M. Fromer +20 more
2020Nature Neuroscience157 citations Open access
Semantic Scholar
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
E. Robinson, K. Samocha, Jack A. Kosmicki, L. McGrath +3 more
2014Proceedings of the National Academy of Sciences of the United States of America145 citations Open access
Semantic Scholar
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
K. Karczewski, L. Francioli, Grace Tiao, B. Cummings +62 more
2021Nature85 citations Open access
Semantic Scholar
Predicting the clinical impact of human mutation with deep neural networks
Laksshman Sundaram, Hongchang Gao, S. Padigepati, Jeremy F. McRae +10 more
2018Nature Genetics69 citations Open access
Semantic Scholar
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Dennis Lal, P. May, E. Pérez-Palma, K. Samocha +27 more
2020Genome Medicine61 citations Open access
Semantic Scholar
Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk
F. Satterstrom, Jack A. Kosmicki, Jiebiao Wang, M. Breen +153 more
2018bioRxiv60 citations Open access
Semantic Scholar
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
E. Migliavacca, C. Golzio, K. Männik, Ian Blumenthal +17 more
2015American Journal of Human Genetics60 citations Open access
Semantic Scholar
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Sanna Gudmundsson, K. Karczewski, L. Francioli, Grace Tiao +63 more
2021Nature56 citations Open access
Semantic Scholar
Discovery of rare variants for complex phenotypes
Jack A. Kosmicki, C. Churchhouse, M. Rivas, B. Neale
2016Human Genetics51 citations Open access
Semantic Scholar
Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans
Donate Weghorn, Daniel J. Balick, C. Cassa, Jack A. Kosmicki +3 more
2018bioRxiv40 citations Open access
Semantic Scholar
ASD and ADHD have a similar burden of rare protein-truncating variants
F. Satterstrom, Raymond K. Walters, T. Singh, E. Wigdor +18 more
2018bioRxiv29 citations Open access
Semantic Scholar
Transcript expression-aware annotation improves rare variant discovery and interpretation
B. Cummings, K. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby +12 more
2019bioRxiv26 citations Open access
Semantic Scholar
De novo variants in neurodevelopmental disorders with epilepsy
H. Heyne, T. Singh, H. Stamberger, R. Jamra +29 more
201813 citations
Semantic Scholar
Gene family information facilitates variant interpretation and identification of disease-associated genes
Dennis Lal, P. May, K. Samocha, Jack A. Kosmicki +26 more
2017bioRxiv12 citations Open access
Semantic Scholar
New mutations, old statistical challenges
J. Barrett, J. Buxbaum, D. Cutler, M. Daly +10 more
2017bioRxiv10 citations Open access
Semantic Scholar
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
Lily Wang, Katherine R. Chao, Ruchit Panchal, C. Liao +28 more
2024bioRxiv8 citations Open access
Semantic Scholar
Schizophrenia risk conferred by protein-coding de novo mutations
D. Howrigan, S. Rose, K. Samocha, M. Fromer +20 more
20187 citations Open access
Semantic Scholar
Author Correction: Predicting the clinical impact of human mutation with deep neural networks
Laksshman Sundaram, Hong Gao, S. Padigepati, J. McRae +10 more
2018Nature Genetics6 citations Open access
Semantic Scholar
The Spectrum of de novo Variants in Neurodevelopmental Disorders with Epilepsy
H. Heyne, R. Jamra, H. Çağlayan, D. Craiu +24 more
2017bioRxiv2 citations Open access
Semantic Scholar
DEVELOPMENTS IN BIOLOGICAL ADVANCEMENTS OF DISORDER OF AUTISM SPECTRUM
Amjad Hussain, Joicey, P. Manickam, Rayees Zahoor Shah +7 more
2023International Journal of Biology Pharmacy and Allied Sciences0 citations Open access
Semantic Scholar
Author Correction: Transcript expression-aware annotation improves rare variant interpretation
B. Cummings, K. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby +14 more
2021Nature0 citations Open access
Semantic Scholar
author-version of: De novo variants in neurodevelopmental disorders with epilepsy
H. Heyne, EuroEPINOMICS Res, Rami Abou, Jamra +48 more
0 citations
Semantic Scholar

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